PIGB - phosphatidylinositol glycan anchor biosynthesis class B Gene

Also Known as DEE80; PIG-B; EIEE80; GPI-MT-III

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9488

About PIGB

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:55,319,222-55,355,648 (from NCBI)

This gene has 12 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), prostate (RPKM 5.8) and 25 other tissues.

Summary

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

PIGB Products (1)

mRNA Protein Name
NM_004855.5 NP_004846.4 GPI mannosyltransferase 3

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables mannosyltransferase activity IDA
IDA: Inferred from direct assay
8861954 GOA
Biological Process GO Annotation Evidence Références Source
involved in GPI anchor biosynthetic process IDA
IDA: Inferred from direct assay
8861954 GOA
involved in mannosylation IDA
IDA: Inferred from direct assay
8861954 GOA
Cellular Component GO Annotation Evidence Références Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
8861954 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGB Protein Structure

Glyco_transf_22

Glyco_transf_22: Alg9-like mannosyltransferase family (63 - 449)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 554 a.a.
Protein Preferred Names Protein Names

GPI mannosyltransferase 3

  • GPI mannosyltransferase III

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 80

  • DEE80

  • Glycosylphosphatidylinositol Biosynthesis Defect 20

  • Gpibd20

  • Epileptic Encephalopathy, Early Infantile, 80

  • Eiee80

  • Developmental And Epileptic Encephalopathy, 80

  • Early Infantile Epileptic Encephalopathy 80
Acrofrontofacionasal Dysostosis

  • Acrofrontofacionasal Dysostosis Syndrome

  • Richieri-Costa-Colletto Syndrome

  • Affn Dysostosis

  • Affn Dysostosis 1

  • Acro Fronto Facio Nasal Dysostosis

  • Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly

  • Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate
Developmental And Epileptic Encephalopathy 55

  • DEE55

  • Glycosylphosphatidylinositol Biosynthesis Defect 14

  • Gpibd14

  • Epileptic Encephalopathy, Early Infantile, 55

  • Eiee55

  • Developmental And Epileptic Encephalopathy, 55

  • Early Infantile Epileptic Encephalopathy 55

  • Encephalopathy, Epileptic, Early Infantile, Type 55
Anterior Segment Dysgenesis 4

  • Iridogoniodysgenesis Syndrome

  • Iridogoniodysgenesis, Type 2

  • Irid2

  • Iridogoniodysgenesis Type 2

  • ASGD4

  • Igds

  • Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant

  • Ihga

  • Irid 1

  • Irid 2

  • Iridogoniodysgenesis Type 1

  • Igds2

  • Iridogoniodysgenesis Syndrome 2

  • Iridogoniodysgenesis, Type 1
Dysostosis

  • Dysostoses
Bleeding Disorder, Platelet-Type, 9

  • Platelet-Type Bleeding Disorder 9

  • Glycoprotein Ia Deficiency

  • BDPLT9

  • Gp Ia Deficiency

  • Collagen Platelet Receptor Deficiency

  • Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency

  • Bleeding Disorder, Platelet Type 9
Developmental And Epileptic Encephalopathy

  • Encephalopathy, Developmental And Epileptic
Epiphyseal Dysplasia, Multiple, 1

  • EDM1

  • Multiple Epiphyseal Dysplasia 1

  • Multiple Epiphyseal Dysplasia Type 1

  • Med1

  • Multiple Epiphyseal Dysplasia Comp-Related

  • Polyepiphyseal Dysplasia Type 1

  • Multiple Epiphyseal Dysplasia, Comp-Related

  • Epiphyseal Dysplasia Multiple 1

  • Epiphyseal Dysplasia, Multiple 1

  • Dysplasia, Epiphyseal, Multiple, Type 1
Polyneuropathy

  • Polyneuropathies
Lissencephaly 8

  • LIS8
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

  • Door Syndrome

  • Doors Syndrome

  • Digitorenocerebral Syndrome

  • Autosomal Recessive Deafness-Onychodystrophy Syndrome

  • Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

  • DOORS

  • Drc Syndrome

  • Eronen Syndrome

  • Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Brachydactyly Due To Absence Of Distal Phalanges

  • Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

  • Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

  • Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

  • Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

  • Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

  • Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

  • Deafness, Congenital Onychodystrophy, Recessive Form

  • Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Early Infantile Epileptic Encephalopathy

  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS10488 PIGB Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PIGB VGNC VGNC:59124
Rattus norvegicus PIGB RGD RGD:1307251
Felis catus PIGB VGNC VGNC:68843
Mus musculus PIGB MGD MGI:1891825
Bos taurus PIGB VGNC VGNC:97300
Macaca mulatta PIGB VGNC VGNC:75985
Others PIGB NCBI